Single Gene Mutation Linked to Diverse Neurological Disorders

The single gene mutation responsible for the rare neurological disorder Lesch-Nyhan syndrome may help explain other, more common neurological illnesses such as Huntington's and Alzheimer's diseases, according to new research published in PLoS ONE. The mutation that causes LeschNyhan occurs in a gene known as HPRT1. One of this gene's many tasks is to help generate the building blocks of RNA and DNA. Researchers at the University of California San Diego (UCSD) engineered mouse stem cells to be HPRT1-deficient but found that these cells did not mature normally. Although in some ways these cells resembled neurons, they performed many of the tasks of glial cells. These cells also showed problems with other functions, such as reproduction and DNA repair. Since many of these problems are also found in many neurodegenerative diseases, the researchers believe that HPNRT1 mutations cause errors in many genetic and metabolic pathways, some of which may also be involved with these illnesses.

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Journal article: The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell Neuronal Differentiation. PLoS ONE, 2013.